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Öğe Biotidinase deficiency accompanied by diffuse demyelination and cerebral atrophy(2012) Okur, Mesut; Bektaş, Mehmet Selçuk; Temel, Hayrettin; Çaksen, Hüseyin; Açıkgöz, Mehmet; Sal, ErtanBiotinidaz eksikliği yaklaşık olarak 60.000 canlı doğumda bir görülen otozomal resesif geçişli herediter bir hastalıktır. Bu hastalıkta genellikle seboreik dermatit, alopesi, ataksi, konvülsiyon, hipotoni, gelişme geriliği, işitme kaybı, kronik laktik asidoz ve immün yetmezlik görülür. Serumda enzim düzeyi ve aktivitesi ölçülerek tanı konulur. Burada herhangi bir cilt bulgusu olmaksızın serebral atrofi ile başvuran 2,5 aylık erkek biotinidaz olgusu sunulmuştur. Hastamızda olduğu gibi etiyolojisi belli olmayan dirençli kon- vülsiyonlar ile başvuran ve herhangi bir cilt bulgusu olmayan hastalarda biotinidaz eksikliği göz önünde bulundurulmalıdır. Ayrıca gelişebilecek komplikasyonların önlenmesi için erken dönemde tedavi uygulanmalıdır.Öğe Biotidinase deficiency accompanied by diffuse demyelination and cerebral atrophy(2012) Okur, Mesut; Bektaş, Mehmet Selçuk; Temel, Hayrettin; Çaksen, Hüseyin; Açıkgöz, Mehmet; Sal, ErtanBiotinidase deficiency is an inherited disorder which has autosomal recessive pattern; it occurs in approximately 1 in 60,000 live births. Usually it manifests seborrheic dermatitis, alopecia, ataxia, convulsions, hypotonia, developmental delay, hearing loss, chronic lactic acidosis and immune deficiency. Its diagnosis is made by the measurement of serum biotinidase enzyme activity and determination of the enzyme. Herein presented that a two and half-month-old boy with biotinidase enzyme deficiency which had cerebral atrophy without any skin signs. In the patients presented with refractory convulsions with unexplainable etiology without any skin lesions, as in our patient, biotinidase enzyme deficiency should be considered and the treatment should be established in early period to prevent many complications that may develop.Öğe Determination of underlying causes in asymptomatic, earlystage renal diseases by dipstick test(Medical Association of Zenica-Doboj Canton, 2013) Okur, Mesut; Arslan, Şükrü; Güven, Ahmet Sami; Temel, Hayrettin; Bektaş, Mehmet Selçuk; Üstyol, LokmanAim To prevent possible chronic kidney diseases in healthy school- age children by screening for hematuria and proteinuria using a urine strip. Methods The incidence of hematuria and proteinuria was determined in 1848 healthy school-age children aged 7 to 14 years by urine screening in the eastern region of Turkey in 2008. Cases with persistent hematuria and/or proteinuria were referred to a pediatric nephrologist, and further examinations were carried out. Results Isolated hematuria, isolated proteinuria, and combined hematuria-proteinuria were found in 92 (4.9%), 16 (0.8%) and 10 (0.5%) patients, respectively. In addition, 11.9% (11/92) of cases of isolated hematuria and 40% (4/10) of cases of combined hematuria- proteinuria were observed to have persisted. Persistent hematuria and persistent hematuria-proteinuria were found in 11 (0.5%) and 4 (0.2%) patients, respectively. In these cases, underlying causes were found: renal stone disease, hypercalciuria, urinary tract infection, vesicoureteral relux, atrophic kidney, and IgA nephropathy. Conclusion According to this study, cases with persistent hematuria should be examined especially in terms of renal stones, hypercalciuria, and urinary tract infection.Öğe THE SCREENING OF HEMATURIA AND PROTEINURIA IN SCHOOL-AGE CHILDREN(Wiley-Blackwell, 2011) Okur, Mesut; Arslan, Salih; Güven, Ahmet Sami; Temel, Hayrettin; Bektaş, Mehmet Selçuk; Üstyol, Lokman…
